ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.853-2A>G (rs863223424)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199603 SCV000249647 pathogenic not provided 2015-06-04 criteria provided, single submitter clinical testing c.853-2 A>G:IVS6-2 A>G in intron 6 of the BMPR2 gene (NM_001204.6). The c.853-2 A>G mutation has been reported in at least one individual with idiopathic PAH (Machado R et al., 2006). This mutation destroys the canonical splice acceptor site in intron 6 and is predicted to cause abnormal gene splicing. The mutation is predicted to lead to an abnormal message that is subject to nonsense-mediated mRNA decay (Machado R et al., 2006). Other splice site mutations in the BMPR2 gene have been reported in association with PAH. Furthermore, the c.853-2 A>G mutation was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In summary, c.853-2 A>G in the BMPR2 gene is interpreted as a disease-causing mutation. This variant was found in PAH-PANCARD
Center for Genomic Medicine,Kyoto University Graduate School of Medicine RCV000242870 SCV000320708 pathogenic Primary pulmonary hypertension 2016-07-11 no assertion criteria provided clinical testing
Medical & Molecular Genetics Group,University of Lincoln RCV000242870 SCV000576118 pathogenic Primary pulmonary hypertension no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003696 SCV001162139 likely pathogenic Pulmonary arterial hypertension no assertion criteria provided research

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